PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Spinal Muscular Atrophy
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle Weakness
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Feeding difficulties
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Hypoplasia of corpus callosum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Global developmental delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Spastic tetraparesis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Respiratory Failure
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
hearing impairment
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cerebellar vermis hypoplasia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Visual Impairment
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cerebral cortical atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
|
24989451 |
2014 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
|
24989451 |
2014 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
|
24989451 |
2014 |
Pontocerebellar Hypoplasia Type 1
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
|
24989451 |
2014 |
nervous system disorder
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees.
|
24989451 |
2014 |
Congenital pontocerebellar hypoplasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system demyelination.
|
27193168 |
2016 |
Central nervous system demyelination
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system demyelination.
|
27193168 |
2016 |
Pontoneocerebellar hypoplasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system demyelination.
|
27193168 |
2016 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.
|
29656927 |
2018 |
Spinal Muscular Atrophy
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Other EXOSC3 mutations and EXOSC8 cases are intermediate - SMA type 1-like presentation, spasticity (mostly in EXOSC8) and death between 3 months and 5 years.
|
29656927 |
2018 |